Canonical Allele Identifier: CA1315402417

Gene: COL3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189002747_189002749delinsGCA , CM000664.2:g.189002747_189002749delinsGCA	GRCh38
NC_000002.11:g.189867473_189867475delinsGCA , CM000664.1:g.189867473_189867475delinsGCA	GRCh37
NC_000002.10:g.189575718_189575720delinsGCA	NCBI36
NG_007404.1:g.33375_33377delinsGCA , LRG_3:g.33375_33377delinsGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.2347-208_2347-206delinsGCA	ENSP00000415346.2:n.2347-208_2347-206delinsGCA
ENST00000304636.9:c.2446-208_2446-206delinsGCA MANE Select	ENSP00000304408.4:n.2446-208_2446-206delinsGCA
ENST00000304636.7:c.2446-208_2446-206delinsGCA	ENSP00000304408.3:n.2446-208_2446-206delinsGCA
ENST00000317840.9:c.2446-208_2446-206delinsGCA	ENSP00000315243.6:n.2446-208_2446-206delinsGCA
NM_000090.3:c.2446-208_2446-206delinsGCA , LRG_3t1:c.2446-208_2446-206delinsGCA	NP_000081.1:n.2446-208_2446-206delinsGCA
NM_000090.4:c.2446-208_2446-206delinsGCA MANE Select	NP_000081.2:n.2446-208_2446-206delinsGCA